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The clinical relevance of sexual dysfunction in systemic sclerosis

Bruni C, Raja J, Denton CP, Matucci-Cerinic M

Autoimmun Rev, 2015 Dec;14(12):1111-5.
PMID: 26235995 DOI: 10.1016/j.autrev.2015.07.016

Systemic sclerosis is a chronic multi-organ autoimmune disease, leading to important clinical and psychological implications. Among organ complications, sexual dysfunction is a major issue for both male and female gender, with high prevalence and great impact on quality of life, although frequently not addressed by both clinicians and patients. While erectile dysfunction is the most common cause of sexual problems in males, genital tract and general physical changes are major contributors to sexual impairment in females. This review presents current state of the art on this topic, discussing published data on presentation, evaluation and therapeutic options.

Matched MeSH terms: Scleroderma, Systemic/complications*
Fulltext Systemic scleroderma with complete heart block

Anuar M, Singham KT

Med J Malaysia, 1983 Mar;38(1):65-7.
PMID: 6633341
Matched MeSH terms: Scleroderma, Systemic/complications*
Fulltext Demography, clinical and laboratory features of systemic sclerosis in a Malaysian rheumatology centre

Pagalavan L, Ong SG

Med J Malaysia, 2007 Jun;62(2):117-21.
PMID: 18705442 MyJurnal

A six year retrospective study of the demography, clinical and laboratory features of patients with systemic sclerosis (SSc) was carried out in Selayang Hospital. There were 61 cases seen between January 2000 and December 2005. Of these, 55 (90.2%) were females and 6 (9.8%) were males. Twenty-eight (45.9%) were Malays, 24 (39.3%) were Chinese and 9 (14.8%) were Indians. The mean age of onset was 38.8 years. Thirty-nine (64.0%) had limited cutaneous SSc, 21 (34.4%) had diffuse cutaneous SSc and one had localized morphoea. Raynaud's phenomenon was present in 82.6%, telangiectasia in 45.9%, calcinosis in 11.5%, sclerodactyly in 83.6%, digital pitting scars in 42.6%, digital infarcts/ulcers/gangrene in 23.0%, arthralgia/arthritis in 49.2% and gastroesophageal reflux disease (GERD) in 47.5%. Forty-three (70.5%) patients had interstitial lung disease. Seven patients had associated myositis, 7 systemic lupus erythematosus and 2 rheumatoid arthritis. Three had two other connective tissue diseases. Antinuclear antibodies were positive in 83.6% and anti-Scl 70 antibodies in 34.4%. This study demonstrates that limited cutaneous SSc is more common and there is a high incidence of interstitial lung disease in our population.
Study site: Selayang Hospital, Kuala Lumpur, Malaysia

Matched MeSH terms: Scleroderma, Systemic/complications*
Fulltext Benign persistent pneumoperitoneum in systemic sclerosis

Wang CL, Wang F, Wong KC, Jeyamalar R

Singapore Med J, 1993 Dec;34(6):563-4.
PMID: 8153727

We describe a 50-year-old Chinese woman who had severe gastrointestinal manifestations from systemic sclerosis complicated by spontaneous pneumoperitoneum in the absence of either visceral perforation or pneumatosis cystoides intestinalis. This is a rare complication of systemic sclerosis; only four other cases have been reported. Recognition of this condition is important so as to avoid unnecessary surgery.

Matched MeSH terms: Scleroderma, Systemic/complications*
Rituximab for refractory digital infarcts and ulcers in systemic sclerosis

Khor CG, Chen XL, Lin TS, Lu CH, Hsieh SC

Clin Rheumatol, 2014 Jul;33(7):1019-20.
PMID: 24722688 DOI: 10.1007/s10067-014-2579-1

Systemic sclerosis is an uncommon connective tissue disease characterised by excessive deposition of collagen and vasculopathy which affects the skin and multiple internal organs. It is associated with autoimmunity, inflammation, vasculopathy and fibrosis. Managing Raynaud's phenonemon, digital infarcts and ulcers in systemic sclerosis patients is often a challenge particularly among rheumatologists. We report a case of systemic sclerosis patient with refractory digital infarcts and ulcers responded successfully with rituximab.

Matched MeSH terms: Scleroderma, Systemic/complications
Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link

Yap WF, Chong HC

Int J Rheum Dis, 2020 Nov;23(11):1568-1573.
PMID: 32969582 DOI: 10.1111/1756-185X.13965

FBN1 gene encodes for the connective tissue protein fibrillin-1 which can also regulate the profibrotic cytokine transforming growth factor (TGF)-ß1. Mutations in the FBN1 gene cause Marfan syndrome (MFS), a genetic condition with defective connective tissues. FBN1 haplotypes and single nucleotide polymorphisms have also been reported to be associated with systemic sclerosis (SSc), a connective tissue disease characterized by fibrosis of multiple organs. Furthermore, the duplication of the Fbn1 gene causes a SSc-like disease in the TsK1 mouse model. To the best of our knowledge, there are no reports of MFS and SSc co-existing in a patient. Here, we describe a 46-year-old woman who presented with cardiac failure. She had a family history of MFS. Physical examination revealed marfanoid habitus and scleroderma features. Echocardiography demonstrated dilated cardiomyopathy with aortic root dilatation, aortic regurgitation and mitral regurgitation. Cardiac magnetic resonance imaging was consistent with dilated cardiomyopathy, mid-wall fibrosis at basal septal wall and dilated aortic root. Extractable nuclear antigen panel detected anti-Scl 70. She fulfilled Ghent criteria for MFS and satisfied American College of Rheumatology/ European League Against Rheumatism classification criteria for SSc. Although we do not have the FBN1 sequence in our patient, the co-existence of MFS and SSc in this patient raises the possibility of co-existence of distinct mutations in the FBN1 gene that could affect TGF-β signaling differently, resulting in divergent pathologic consequences - loss of structural integrity in MFS versus increased extracellular matrix deposition in SSc, and different clinical manifestations.

Matched MeSH terms: Scleroderma, Systemic/complications*
Recurrent spontaneous subdural hematoma secondary to immune thrombocytopenia in a patient with overlap syndrome

Goh KG, Ong SG

Lupus, 2015 Jan;24(1):90-3.
PMID: 25305213 DOI: 10.1177/0961203314554248

Patients with autoimmune connective tissue disease may manifest as overlap syndrome with features of systemic lupus erythematosus (SLE), systemic sclerosis, rheumatoid arthritis and myositis. Those presenting with active SLE can present with immune thrombocytopenia (IT) and may be complicated with subdural hematoma which, though rare, is potentially life-threatening. We report here a patient with overlap syndrome who had recurrent spontaneous subdural hematoma due to severe thrombocytopenia which did not respond to corticosteroids and azathioprine. Her platelet count became normal with three doses of low-dose intravenous cyclophosphamide (IV CYC) given at 3-weekly intervals. She remained in remission with maintenance therapy with azathioprine.

Matched MeSH terms: Scleroderma, Systemic/complications
Fulltext Sustained benefit from intravenous immunoglobulin therapy for gastrointestinal involvement in systemic sclerosis

Raja J, Nihtyanova SI, Murray CD, Denton CP, Ong VH

Rheumatology (Oxford), 2016 Jan;55(1):115-9.
PMID: 26320139 DOI: 10.1093/rheumatology/kev318

OBJECTIVE: IVIG is known to confer significant benefit in rheumatologic conditions, including inflammatory myopathy. This study aimed to assess the efficacy of IVIG across different aspects of internal organ involvement in refractory active SSc, particularly the gastrointestinal (GI) system.
METHODS: SSc patients with overlap polymyositis who remained active and unresponsive to conventional disease-modifying agents and who subsequently received IVIG were identified. GI symptoms were assessed using validated questionnaires. The Medical Research Council Sum Score for muscle strength and modified Rodnan skin score (mRSS) were assessed. Serial measurements were undertaken at baseline prior to the first IVIG treatment and post-treatment in the most recent assessment.
RESULTS: Fifteen SSc patients were consecutively recruited into this observational study. The mean duration of IVIG treatment was 2.3 years, with treatment frequency ranging from every 6 weeks to 4 months. Compared with baseline, there was a significant reduction in gastro-oesophageal reflux frequency and intensity mean scores (P = 0.006 and P = 0.013, respectively). Significant improvement in the Gastrointestinal Tract (GIT) 2.0 score from a baseline mean score of 1.07 (s.d. 0.67) to 0.60 (0.46) (P = 0.002) was observed. There was regression in the markers of muscle disease with a reduction in the mean (s.d.) Medical Research Council sum score and the median creatine kinase level (P = 0.001 and P = 0.025, respectively). Significant amelioration of the mean basal modified Rodnan skin score from 21.5 (s.d. 13.8) to 10 (10.6) (P = 0.005) was observed.
CONCLUSION: IVIG may be a helpful adjunctive therapy in the amelioration of some key clinical aspects in refractory SSc. Sustained benefit from IVIG suggests a specific immunomodulatory effect on those with established SSc GI complications.
Study site: Royal Free Hospital, United Kingdom

Matched MeSH terms: Scleroderma, Systemic/complications
Large fiber peripheral neuropathy in systemic sclerosis: A prospective study using clinical and electrophysiological definition

Raja J, Balaikerisnan T, Ramanaidu LP, Goh KJ

Int J Rheum Dis, 2021 Mar;24(3):347-354.
PMID: 33432774 DOI: 10.1111/1756-185X.14042

AIM: The reported prevalence of peripheral neuropathy in systemic sclerosis (SSc) is variable between 0.01% to 28%, probably due to differences in sample size, study design and population. Our aim is to determine the prevalence of large fiber peripheral neuropathy in SSc and to identify any contributing factors.
METHOD: A prospective cross-sectional study of 60 SSc patients were evaluated for large fiber neuropathy using the modified clinical Total Neuropathy Score (cTNS) and nerve conduction study (NCS) of the upper and lower limbs. A combination of clinical (cTNS score ≥ 2) and NCS criteria (≥2 abnormal nerves including 1 sural [symmetrical polyneuropathy] and NCS abnormalities consistent with individual nerves/nerve roots [focal neuropathy]) was used to diagnose peripheral neuropathy.
RESULTS: The majority had limited cutaneous subset (75%). Mean age was 55.73 (SD ± 13.04) years and mean disease duration was 8.61 (SD ± 8.09) years. Twenty-two (36.7%) had combined clinical and NCS criteria for peripheral neuropathy, 14 (23.3%) with symmetrical polyneuropathy and 8 (13.3%) with focal neuropathy. Symmetrical polyneuropathy patients had significantly lower hemoglobin levels (11.2 vs. 12.35 g/L; P = .047). Serum vitamin B12 levels were normal, therefore excluding vitamin B12 deficiency. No other associations were found for both polyneuropathy and focal neuropathy with demography, co-morbid diseases and SSc disease factors such as Raynaud's phenomenon and modified Rodnan skin score.
CONCLUSION: Large fiber neuropathy is common in SSc patients, which could contribute to non-lethal burden in SSc with sensory loss and muscle weakness. Apart from lower hemoglobin in polyneuropathy, there were no associations with disease-specific features or co-morbid diseases.

Matched MeSH terms: Scleroderma, Systemic/complications*